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Gaucher Disease

What is Gaucher disease?

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.

This can cause many different symptoms. Your spleen and liver may get very large and stop working normally. The disease can also affect your lungs, brain, eyes, and bones.

There are 3 types of Gaucher disease:

Type 1. The most common type, affecting about 90% of people with Gaucher disease. If you have type 1, you don’t have enough platelets in your blood. This can make you bruise easily and feel very tired (fatigued). Your symptoms can begin at any age. You might have an enlarged liver or spleen. You may also have kidney, lung, or skeletal problems.

Type 2. This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases children don’t live beyond 2 years old.

Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.

What causes Gaucher disease?

Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene.

It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may not show any signs of the disease.

What are the symptoms of Gaucher disease?

Each person’s symptoms may vary. For many people, symptoms begin in childhood. Some people have very mild symptoms.

Symptoms of Gaucher disease can include:

Enlarged spleen

Enlarged liver

Eye movement disorders

Yellow spots in the eyes

Not having enough healthy red blood cells (anemia)

Extreme tiredness (fatigue)

Bruising

Lung problems

Seizures

How is Gaucher disease diagnosed?

To make a diagnosis, your healthcare provider will look at your overall health and past health. He or she will give you a physical exam.

Your provider will also look at:

Your description of symptoms

Your family medical history

Blood test results

Because Gaucher disease has so many different symptoms, it can be hard to get an accurate diagnosis.

How is Gaucher disease treated?

There is no cure for Gaucher disease. But treatment can help you control your symptoms.

Your treatment will depend on what type of Gaucher disease you have. Treatment may include:

What can I do to prevent Gaucher disease?

If Gaucher disease runs in your family, talk with a genetic counselor. He or she can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children.

Testing the brother or sister of someone with Gaucher disease may help detect the disease early. This can help with treatment.

When should I call my health care provider?

Call your health care provider if you have any of these symptoms:

Feeling dizzy

Fainting

Seizures

Trouble breathing

Loss of mobility

Abnormal bone fractures or bone pain

Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provider know if your treatment is no longer helping to control your original symptoms.